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Results by year

Year	Number of Results
1971	2
1975	8
1976	7
1977	9
1978	8
1979	3
1980	10
1981	13
1982	15
1983	18
1984	13
1985	18
1986	19
1987	21
1988	12
1989	18
1990	18
1991	16
1992	21
1993	22
1994	18
1995	22
1996	20
1997	26
1998	24
1999	32
2000	22
2001	34
2002	31
2003	29
2004	40
2005	46
2006	50
2007	47
2008	48
2009	44
2010	60
2011	53
2012	42
2013	71
2014	64
2015	56
2016	64
2017	72
2018	76
2019	74
2020	89
2021	76
2022	82
2023	60
2024	9

1,585 results

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Results by year

Page 1

[Analysis of molecular genetics and clinical characteristics of 3 children with Waardenburg syndrome].

Lin Z, Tang J, Yun L, Zhou K, Huang L, Qu S, Wang T, Mo J, Li F, Tang F. Lin Z, et al. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023 Feb;37(2):107-112. doi: 10.13201/j.issn.2096-7993.2023.02.006. Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2023. PMID: 36756824 Free PMC article. Chinese.

Smith-Lemli-Optiz syndrome: importance of ophthalmology referral and follow-up.

López-Cañizares A, Al-Khersan H, Fernandez MP, Lin BR, Goduni L, Berrocal AM. López-Cañizares A, et al. J AAPOS. 2023 Apr;27(2):100-102. doi: 10.1016/j.jaapos.2022.11.007. Epub 2022 Dec 21. J AAPOS. 2023. PMID: 36563894

Research on the expression of elastin in the conjoint fascial sheath for the correction of severe unilateral congenital blepharoptosis.

Liu Z, Jia X, Pang R, Wang H, Shi J, Bai P. Liu Z, et al. BMC Ophthalmol. 2022 Jun 8;22(1):256. doi: 10.1186/s12886-022-02469-w. BMC Ophthalmol. 2022. PMID: 35676638 Free PMC article.

Kearns-Sayre syndrome with rare imaging finding of SLC25A4 Mutation.

Zhao H, Shi M, Yang F, Yang X. Zhao H, et al. Neurosciences (Riyadh). 2022 Apr;27(2):111-115. doi: 10.17712/nsj.2022.2.20210123. Neurosciences (Riyadh). 2022. PMID: 35477912 Free PMC article.

A human paradigm of LHX4 and NR5A1 developmental gene interaction in the pituitary gland and ovary?

Giannakopoulos A, Sertedaki A, Chrysis D. Giannakopoulos A, et al. Eur J Hum Genet. 2022 Oct;30(10):1191-1194. doi: 10.1038/s41431-022-01076-z. Epub 2022 Mar 11. Eur J Hum Genet. 2022. PMID: 35277652 Free PMC article.

Whole-exome sequencing identified first homozygous frameshift variant in the COLEC10 gene in an Iranian patient causing 3MC syndrome type 3.

Mohammadi P, Salehi Siavashani E, Mohammadi MF, Bahramy A, Almadani N, Garshasbi M. Mohammadi P, et al. Mol Genet Genomic Med. 2021 Nov;9(11):e1834. doi: 10.1002/mgg3.1834. Epub 2021 Oct 12. Mol Genet Genomic Med. 2021. PMID: 34636477 Free PMC article.

MASP1-related 3MC syndrome in a patient from Turkey.

Durmaz CD, Altıner Ş. Durmaz CD, et al. Am J Med Genet A. 2021 Jul;185(7):2267-2270. doi: 10.1002/ajmg.a.62191. Epub 2021 Mar 25. Am J Med Genet A. 2021. PMID: 33765348

The use of frontalis sling in the management of variable ptosis secondary to congenital myasthenic syndrome.

Tan Y, Curragh DS, Selva D. Tan Y, et al. Orbit. 2022 Jun;41(3):386-388. doi: 10.1080/01676830.2021.1874425. Epub 2021 Jan 20. Orbit. 2022. PMID: 33467958

Gene expression profiling of orbital muscles in treatment-resistant ophthalmoplegic myasthenia gravis.

Europa TA, Nel M, Heckmann JM. Europa TA, et al. Orphanet J Rare Dis. 2020 Dec 11;15(1):346. doi: 10.1186/s13023-020-01629-9. Orphanet J Rare Dis. 2020. PMID: 33308266 Free PMC article.

Assessment of COL1A1 and MMP9 expression in patients with dermatochalasis.

Turkcu UO, Yuksel N, Akcay E, Ayan B, Kuru O, Edgunlu T, Tosun K. Turkcu UO, et al. Int Ophthalmol. 2020 Aug;40(8):1987-1992. doi: 10.1007/s10792-020-01373-w. Epub 2020 Apr 22. Int Ophthalmol. 2020. PMID: 32323045

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